A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012190



Internal ID19101408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9527501hg38UCSC Ensembl
Innerchr4:9370690..9529130hg19UCSC Ensembl
Innerchr4:8979788..9138228hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38158538
hg19158441
hg18158441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5102n100
Supporting Variantsnssv3738185
Samples
Known GenesDEFB131, LOC650293, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012190
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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